Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal
disorders, facial features and joint limitation, caused by a gain of function mutation in …

Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive
and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild …

Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …

Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent
germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty …

Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of
missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive …

Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of
this disorder include distinctive facial appearance, deafness, intellectual disability …

A case study is presented of a boy presented with myhre syndrome. Topics discussed
include presence of short stature and mild intellectual disability in the boy; analysis of …

Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder,
characterized by developmental delay, characteristic facial features, various bone and joint …

Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized
by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin …

Constrictive pericarditis—Constrictive pericarditis is the result of scarring and consequent
loss of the normal elasticity of the pericardial sac. Pericardial constriction is typically chronic …